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ONTOLOGY REPORT - ANNOTATIONS


Term:selective pituitary thyroid hormone resistance
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Accession:DOID:0111374 term browser browse the term
Definition:A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in THRB on chromosome 3p24.2. (DO)
Synonyms:exact_synonym: PRTH;   familial hyperthyroidism due to inappropriate thyrotropin secretion;   pituitary resistance to thyroid hormone;   selective pituitary resistance to thyroid hormone
 primary_id: MESH:C564154
 alt_id: OMIM:145650
 xref: ORDO:165994
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selective pituitary thyroid hormone resistance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Thrb thyroid hormone receptor beta JBrowse link 15 8,890,578 9,239,815 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      endocrine system disease 4810
        thyroid gland disease 319
          hyperthyroidism 92
            selective pituitary thyroid hormone resistance 1
Path 2
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          monogenic disease 4686
            autosomal genetic disease 3645
              autosomal dominant disease 2156
                selective pituitary thyroid hormone resistance 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.